The in vivo mitochondrial two-step maturation of human frataxin

Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy. Although the exact function of frataxin is still a matter of debate, it is widely accepted that frataxin i...

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Veröffentlicht in:	Human molecular genetics 2008-11, Vol.17 (22), p.3521-3531
Hauptverfasser:	Schmucker, Stéphane, Argentini, Manuela, Carelle-Calmels, Nadège, Martelli, Alain, Puccio, Hélène
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Animals Ataxia Biological and medical sciences Biosynthesis Cardiomyopathy Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Electrophoresis, Polyacrylamide Gel Fibroblasts Frataxin Friedreich Ataxia Friedreich Ataxia - genetics Friedreich Ataxia - metabolism Friedreich's ataxia Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heme Humans Iron Iron-Binding Proteins Iron-Binding Proteins - chemistry Iron-Binding Proteins - genetics Iron-Binding Proteins - metabolism Isoforms Life Sciences Medical sciences Mice Mitochondria Mitochondria - genetics Mitochondria - metabolism Mitochondrial processing peptidase Mitochondrial Proteins Mitochondrial Proteins - metabolism Molecular and cellular biology Mutagenesis, Site-Directed N-Terminus Neurodegenerative diseases Neurology Peptidase Peptide Mapping Phenotypes Physiology Protein Processing, Post-Translational Proteins Quantitative Methods Recombinant Proteins Recombinant Proteins - chemistry Recombinant Proteins - metabolism Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Sulfur
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